Kayserili, Hülya U.

Top Publications

Top Publications Authored or Co-Authored by "Kayserili, Hülya U."

• Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

  Science, Volume 343, No. 6170, Year 2014, Citations 476
• TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

  Nature Genetics, Volume 43, No. 3, Year 2011, Citations 348
• Impaired glycosylation and cutis laxa caused by mutations in the vesicular H⁺-ATPase subunit ATP6V0A2

  Nature Genetics, Volume 40, No. 1, Year 2008, Citations 340
• Mutations in the AHI1 gene, encoding Jouberin, cause Jeubert syndrome with cortical polymicrogyria

  American Journal of Human Genetics, Volume 75, No. 6, Year 2004, Citations 279
• Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy

  Science, Volume 338, No. 6105, Year 2012, Citations 272